What is Down syndrome?

Easily described, the chromosomes are the structure that carry our genes. Most people have 46 chromosomes assembled in 23 couples, one half of every couple comes from the father and the other half from the mother. The 22 first couples are named after their number (1-22) while the last couple, the sex chromosomes, are labeled X and Y. A male has one of each (XY) and a woman has two X chromosomes (XX).

Down syndrome means that there is a third copy of chromosome 21. This change comes in three different variations: trisomy 21, mosaic Down syndrome and trisomy 21 location. Trisomy 21 is the most common one and sometimes used as a designation for all types of Down syndrome.

Down syndrome is a diagnosis with different kinds of symptoms, not a disease. The syndrome got its name from the English doctor John Langdon Down who was the first to describe it back in 1866. In 1959 researchers found out that what caused the symptomes was the extra copy of chromosome 21.

Children and adults with Down syndrome all have some common characteristic and a varying degree of learning difficulties, which often cause a delayed or narrow motor- and language development. However, it is important to stress that people with Down syndrome are just as any other individual – with different interests and personalities. This means that support from the society and school needs to be focused on an individual basis, adapted to everyone’s personal abilities and strengths.

Many children with Down syndrome use AAC (Augmentative and Alternative Communication) as a support for communication development – like for example sign language – which also has shown positive effects on their general communication and language development.

World Down Syndrome Day (WDSD), 21 March, is a global awareness day which has been officially observed by the United Nations since 2012.

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